ARCHIVES OF IRANIAN MEDICINE
Year:2016 | Volume:19 | Issue:4|Papers Count:17

BACKGROUND: Fanconi anemia (FA) is a rare genetic syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. FA is usually inherited as an autosomal recessive condition. This disease is genetically heterogeneous and mutations in 16 different genes have been identified in FA patients to date. An accurate diagnosis needs detection of pathogenic variations in the FA genes along with positive results from chromosome breakage test.METHODS: In this study, 48 families with at least 2 affected FA patients and positive chromosome breakage test were enrolled from the Iranian population. Molecular analysis of FA genes was performed using Next Generation Sequencing (NGS) method and Multiple Ligation Dependent Probe Amplification (MLPA).RESULTS: Causal mutations for 30 (63%) patients were identified in homozygous or compound heterozygous forms. FANCA had the highest mutation frequency rate (83%) followed by FANCG (10%), FANCD2 (3%) and FANCL (3%). A significant proportion (44%) of FANCA mutations were large rearrangements.CONCLUSION: Genetic testing for FA patients improves the accuracy of diagnosis and also will be essential for genetic counselling and prenatal diagnosis for future pregnancies in the family. Availability of NGS technology has made the screening of all known FA genes at once more practical and affordable.

BACKGROUND: Malaria is a major public health challenge in tropical and semi-tropical countries in terms of high morbidity and mortality. The present study aimed to report the burden of malaria in Iran, extracted from the global burden of disease 2010 study (GBD 2010) covering the period 1990 to 2010, to compare these findings with similar results, and to present some recommendations as potential solutions for gaining more accurate estimations regarding the burden of the disease in Iran.METHODS: Data covering the period from 1990 to 2010 were derived from the GBD 2010, which is published by the Institute for Health Metrics and Evaluation (IHME). The findings were used to estimate the years lived with disability (YLDs), the years of life lost (YLLs), the disability-adjusted life-years (DALYs), and the death rate of malaria in Iran.RESULTS: The GBD 2010 estimated that there was a sharp declining death trend with regard to DALYs and death rate, showing that 4,647.63 DALYs were due to malaria in Iranian people of all ages and both genders, and that DALYs per 100,000 individuals declined from 37.15 in 1990 to 5.87 in 2010. The total number of malaria deaths over the 20 years was 73.37.CONCLUSION: The findings revealed that the burden of malaria decreased remarkably between 1990 and 2010. The explanation for this decrease is the establishment of a malaria surveillance system in various parts of Iran, and utilization of proper intervention and the improvement of infrastructures, which play a role in disease transmission, especially in endemic areas.

INTRODUCTION: Current evidence is inconsistent about the association between dietary protein intake and risk of pancreatic cancer (PC). The aim of this study was to evaluate the association between total intake of major dietary protein sources and risk of PC in a large prospective study in Golestan Cohort Study (GCS).METHODS: We examined the association of total intake of major dietary protein sources with risk of PC in the 50,045 participants (20,855 men and 28,255 women) of the GCS in northeastern Iran. Participants were aged 40 and older at baseline and actively followed from 2004 to the present time. Dietary data were collected using a validated semi-quantitative food-frequency questionnaire that was administered at baseline. Cox proportional hazards models were used to estimate Multivariable hazard ratios with 95% confidence intervals (CI).RESULTS: During 383,630 person-years of follow-up, 54 cases of pancreatic cancer were ascertained. There was only a statistically significant inverse association between risk of PC for the second versus lowest tertile of plant based protein intake in the first and multivariable models (HR =. 27, 95% CI =. 12–.64, HR =. 28, 95% CI =. 12 –.65 respectively); however, this association was not significant anymore when comparing the highest tertile with the lowest one, in the first and multivariable models (HR =. 49, 95% CI =. 19–1.24, HR =. 52, 95% CI =. 20–1.34 respectively).CONCLUSION: In this large prospective cohort, we did not observe any clear and consistent evidence for an association between main dietary.

BACKGROUND: Neuropsychological manifestations are present in 60% of patients with Systemic Lupus Erythematosus (SLE) among which cognitive dysfunction is the most common. This study aims to determine the prevalence of cognitive disorders in SLE patients, and the relationship between cognitive disorder domains and depression and anxiety.METHODS: In this cross-sectional study, 54 patients with SLE and 48 healthy subjects were included. Mini-Mental State Examination (MMSE), Clock Drawing Test (CDT) and Trail Making Test part A (TMT-A) were used to screen for cognitive impairments. All subjects were evaluated with the Beck Depression Inventory (BDI) and the Beck Anxiety Inventory (BAI) to determine depression and anxiety as probable confounding variables.RESULTS: The mean MMSE scores in SLE and control group patients (26.12 ± 3.58 and 28.01 ± 1.99, respectively) were significantly different (P = 0.001). The sub-scores in all areas assessed with MMSE were lower in SLE patients; however, it was only significant in the areas of orientation, recall and language (P < 0.05). SLE patients showed a significantly poorer performance in TMT compared to healthy controls (P = 0.01). The CDT according to the Watson scoring system showed significant difference between the two groups (P = 0.03). The Sunderland scoring system also indicated poorer performance in the SLE group, but the difference was not significant.CONCLUSION: Our study showed that cognitive disorders are more than 3-fold higher in SLE patients compared to normal subjects. The most impaired domains include orientation, Memory (recall), Language, Executive function, and psychomotor speed. Anxiety and depression are mostly correlated with domains included in the MMSE test.

AIM: The aim of this study is to present our institutional experience during the management of anesthesia in lung transplantation (LT) surgeries as a definitive surgical treatment option in end-stage lung diseases.METHODS: From a total of 15 patients, lung transplantation was performed as single LT (SLT) in 4 patients (n = 4) and as sequential bilateral LT (BLT) in 11 patients (n = 11). The anesthetic management included; for induction; intravenous ketamine, midazolam at doses of 2 mg/kg, 0.05 mg/kg, respectively or propofol, fentanyl at doses of 1 mg/kg, 3 mcg/kg, respectively. For maintenance, all patients received; 100% O2 and total intravenous infusion of propofol and remifentanil at doses of 0.02 mcg/kg/min and 0.1–0.25 µg/kg/min, respectively. All patients received intravenous rocuronium bromide for induction and maintenance. Hemodynamic stability was maintained with appropriate and adequate administration of vasodilators (intravenous Prostaglandin (PGI2) (0.5–1 ng/kg/min), inhaled nitric oxide (10–40 ppm), dopamine (2 mcg/kg/min) and vasopressors (intravenous dobutamine (5–15 mcg/kg/min), norepinephrine (0.05–1 mcg/kg/min),ephedrine (5 to 10 mg bolus doses ) to keep mean arterial blood pressure above 50 mmHg.RESULTS: Cardiopulmonary bypass (CPB) was performed in five patients who underwent sequential BLT and one SLT case. Venoarterial (VA) extracorporeal membrane oxygenation (ECMO) was used in four cases of sequential BLT and in two cases of SLT. Neither ECMO nor CPB was performed in two BLT and in one SLT patient. One SLT patient who underwent CPB was admitted to the intensive care unit with support of intra-aortic balloon pump (IABP) and ECMO. Intraoperative death did not occur.CONCLUSION: During SLT or BLT, management of anesthesia with propofol and remifentanil provides a stable hemodynamic and medical support. Although our experience with VA ECMO was limited, our experience shows that this support system is a valuable tool to provide hemodynamic stability for patients undergoing LT.

BACKGROUND: Type-2 diabetes mellitus (DM) and Metabolic syndrome (MetS) are both associated with dyslipidemia which may lead to development of vascular complications. Adiponectin is an anti-inflammatory protein synthesized by the adipose tissue. There is controversy regarding the association of adiponectin with lipid profile.AIM: To evaluate the correlation between serum adiponectin concentration and metabolic profile in patients with type-2 DM.METHODS: A single center cross-sectional study was conducted on 173 patients with type-2 DM (82 males and 91 females). Plasma adiponectin concentration, lipid profile, glucose profile, and anthropometric features were investigated. Insulin resistance was determined using Homeostasis model assessment (HOMA). Correlation of serum adiponectin with lipid profile of patients with type-2 DM was assessed.RESULTS: Adiponectin was negatively correlated with waist circumference (r = -0.16, P = 0.06) and positively with HbA1c (r = 0.19, P = 0.032), total cholesterol (r = 0.23, P = 0.017), LDL (r = 0.30, P = 0.001), SD-LDL (r = 0.41, P < 0.001), and SD-LDL/LDL (r = 0.22, P = 0.023). We found a positive correlation between adiponectin and total cholesterol (r = 0.27, P = 0.055), LDL (r = 0.34, P = 0.026) and SD-LDL (r = 0.41, P = 0.006) in patients with at least 3 components of MetS criteria. Correlation of adiponectin with LDL and SD-LDL remained positively significant with increasing the number of MetS components. In patients with 5 components of MetS, serum adiponectin was significantly correlated with serum triglyceride (r = 0.89). Significant interaction was observed between adiponectin and metabolic syndrome in relation to serum lipid profile.CONCLUSION: The results of the present study suggest that in patients with type-2 DM and MetS, lipid profile is strongly correlated with blood concentration of adiponectin. The strongest association was observed between serum adiponectin and LDL.

BACKGROUND: Nuclear factor-kappa B (NF-kB) activation and its inhibition by NF-kB inhibitor (IB) have been functionally linked to germ cell apoptosis, which may affect human infertility. We hypothesized a possible relationship between the NF-kB1-94ins/del ATTG (rs28362491) and NF-kBIA 3’UTR A ®G (rs696) polymorphism, which are common polymorphisms and the susceptibility to oligospermia in the context of the sperm apoptosis.METHODS: In order to evaluate this association, we studied the polymorphisms and sperm apoptosis rates of 114 men with idiopathic oligospermia, as well as 130 normospermic men, using PCR-RFLP and TUNEL staining methods, respectively.RESULTS: Univariate analysis revealed that heterozygous ID genotype at the NF-kB1 -94ins/del ATTG polymorphism is associated with an approximately 2.4-fold reduced risk of oligospermia (P = 0.006, 95% confidence intervall = 1.34 – 4.13). However, the genotype and allele frequencies of NF-kBIA 3’UTR A®G polymorphism, and the genotype frequencies of all possible rs28362491/rs696 genotype combinations did not show any significant differences between oligospermic and normospermic men. Furthermore, neither polymorphism appeared to affect sperm apoptosis, although the sperm apoptosis index was detected to be significantly higher in the oligospermic patients compared with those in the controls (P < 0.05).CONCLUSION: Our findings suggested that the heterozygosity of rs28362491 in the NF-kB1 gene may have a protective effect against oligospermia and could modify the susceptibility of oligospermia in a group with idiopathic male infertility in a Turkish population.

INTRODUCTION: Currently, Nonalcoholic Fatty Liver Disease (NAFLD) is the most common liver disease in the world. The only approved treatment for it is lifestyle modification and weight loss; however, there is no treatment option for patients with normal or low body mass index (BMI).The aim of this study is to evaluate the efficacy of synbiotics supplementation in NAFLD patients with normal or low BMI.METHODS AND ANALYSIS: In our randomized, double-blind, placebo-controlled clinical trial protocol, forty-two patients will be assigned to take either a synbiotic or a placebo capsule for 28 weeks. Both groups will undergo the standard treatment.ETHICS AND DISSEMINATION: The study protocol has been approved by ethics committee of Shahid Beheshti University of Medical Sciences. At the beginning of the study, a written informed consent form will be signed and dated by subjects and investigators. The results will be published in due time.

PURPOSE: Carpal tunnel syndrome is the most common compression neuropathy and carpal tunnel surgery is the most frequently performed hand surgery. Anatomic anomalies may predispose the median nerve to compression. The aim of the current study was to search for anatomic anomalies in open carpal tunnel surgeries through a cross-sectional study.METHODS: During a cross-sectional study in a one-year period, 436 consecutive patients (307 females and 129 males) with the average age of 50.3 ± 2.4 years underwent 467 classic open carpal tunnel surgeries. Thirty-one patients had bilateral surgeries. A thorough inspection of the incisions was conducted to search for vascular, neural, tendon and muscular anomalies.RESULTS: Forty-two (8.9%) hands (14 males and 28 females) had anomalies. The average age of the patients with discovered anomalies was 48.6 ± 7.6 years. Ten anomalies were seen on the left hands and 32 anomalies were seen on the right hands. Among the 42 anomalies, there were 16 persistent median arteries, 14 anomalies of the median nerve, 7 intratunnel intrusion of the flexor and lumbrical muscle bellies and 5 anomalies of the origin of the thenar muscles. There was no correlation between the discovered anomalies and the age, gender or hand sides.CONCLUSION: Anatomical anomalies are not uncommon in carpal tunnel surgeries. However, the frequencies of the reported anomalies vary among different studies. Familiarity with these anomalies increases the safety of the operation.

BACKGROUND: Food security is one of the main factors of individual and social health. It is of such importance that the World Bank and Food and Agriculture Organization (FAO) announced it as one of the Millennium Development Goals. This study aimed to report the prevalence of food insecurity in Iran.METHODS: We searched English databases including; Scopus, Ovid, Web of Science, PubMed and Google Scholar and also Iranian databases; SID, Magiran and IranMedex for words Iran, food insecurity, and prevalence up to August 2015. The pooled food insecurity prevalence was calculated using Der-Simonian test. All analyses were performed using random effects model with 95% CI. We assessed heterogeneity of the studies using sub-group and meta-regression analyses.RESULTS: A total of 31 studies were included. The prevalence of food insecurity was 49% among households (95% CI: %40-%59), 67% in children (95% CI: %63-%70), 61% in mothers (95% CI: %35–%88), 49% in adolescents (95% CI: %33-%66) and 65% in the elderly (95% CI: %44-%86).CONCLUSION: The prevalence of food insecurity is high in Iran. Fiscal policies should promote the nutritional knowledge of household members and also support the households to meet their nutritional needs. This plan should give priority to mid and low socioeconomic groups.

Primary diffuse large B cell lymphoma (DLBCL) presents as a nodal and extranodal disease. The most common extranodal site is the gastrointestinal tract (GI), with the stomach most frequently involved, followed by the small bowel. Primary DLBCL of the large bowel accounts for 0.2%–1.2% of all colonic tumors. We present two patients who underwent radical resections of right colonic tumors. They were diagnosed with primary colonic DLBCL following histological and immunohistochemical testing of the excised tissues, and were determined as being in stage IIE of the disease. The tumors expressed CD20 markers. Both received multi-agent chemotherapy with combined immunotherapy and remain in complete remission at 4 and 5 years.

Introduction: ‘Kalileh va Demneh’ is a collection of stories and an allegorical fables purportedly translated by Borzuyeh from The sanskirit panchtantra (the five principles) in to the Pahlavi language (middle Persian) and brought to Iran from India during the reign of the Sassanid king, Khosro Anoushiravan (reign 531-579 C.E.).

The 3rd International Congress on Transfusion Medicine was organized by the High Institute for Research and Education in Transfusion Medicine (IRETM) and the Scientific Society of Blood Transfusion in Tehran, Iran on December 15-17, 2015. The World Health Organization (WHO), the International Society of Blood Transfusion (ISBT), the French Blood Establishment (L’Etablissement Francais du Sang; EFS), the Asian Association of Transfusion Medicine (AATM) and the European School of Transfusion Medicine (ESTM) were the main international scientific contributors.

Dear Editor, We read with interest the Correspondence entitled “Strengthening US-Iranian relations through public health”, published in the September 2015 issue of the Lancet Glob Health Journal (Volume 3, pages: e525–e526).1 The authors prepared the paper, considering the visit of the chancellors of two Iranian Universities of Medical Sciences to the University at Albany in the United States.

Dear Editor; In our recent article entitled “effects of Ramadan fasting on glucose homestasis, lipid profiles, inflammation and oxidative stress in women with Polycystic Ovary Syndrome (PCOS) in Kashan, Iran”, we concluded that Ramadan fasting for 4 weeks in woman with picos had beneficial effects on nitric oxide and plasma glutathione levels, but it did not affect glucose hemostasis parameters, lipid profiles or total antioxidant capacity.

Dear Editor, It is an interesting article by Asemi et al.1 published in this journal in December 2015. The authors investigated the impact of Ramadan fasting in women with polycystic ovary syndrome (PCOS) with respect to their metabolic status. This study is very valuable for muslim women suffering from PCOS. Nevertheless, there are numerous important points which remain unclear regarding the results.

The Late professor Jamal Gousheh was a pioneer of hand and micro-vascular surgery in Iran and a known hand surgeon in the world. He was born in Tehran in 1931. He attended primary and high school in Tehran. Before entering medical college, he worked in a glass blowing factory, and later used this art for making serum bottles during his medical school.